Carré, Aurore

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

Stoupa, A., Adam, F., Kariyawasam, D., Strassel, C., Gawade, S., Szinnai, G., Kauskot, A., Lasne, D., Janke, C., Natarajan, K., et al. (2018) · EMBO Molecular Medicine

Thyroid Disorders and TreatmentsGenetic and Kidney Cyst Diseases

Cited by 71

New genetics in congenital hypothyroidism

Stoupa, A., Kariyawasam, D., Muzza, M., de Filippis, T., Fugazzola, L., Polak, M., Persani, L., & Carré, A. (2021) · Endocrine

Thyroid Disorders and TreatmentsHead and Neck Anomalies

Cited by 59

Update of Thyroid Developmental Genes

Stoupa, A., Kariyawasam, D., Carré, A., & Polak, M. (2016) · Endocrinology and Metabolism Clinics of North America

Thyroid Disorders and TreatmentsHead and Neck Anomalies

Cited by 47

DYRK1A BAC Transgenic Mouse: A New Model of Thyroid Dysgenesis in Down Syndrome

Kariyawasam, D., Rachdi, L., Carré, A., Martin, M., Houlier, M., Janel, N., Delabar, J.-M., Scharfmann, R., & Polak, M. (2015) · Endocrinology

Thyroid Disorders and TreatmentsDown syndrome and intellectual disability research

Cited by 30

Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations

Stoupa, A., Chaabane, R., Guériouz, M., Raynaud-Ravni, C., Nitschke, P., Bole-Feysot, C., Mnif, M., Ammar Keskes, L., Hachicha, M., Belguith, N., et al. (2018) · Thyroid

Thyroid Disorders and TreatmentsHead and Neck Anomalies

Cited by 29

New Cases of Isolated Congenital Central Hypothyroidism Due to Homozygous Thyrotropin Beta Gene Mutations: A Pitfall to Neonatal Screening

Ramos, H. E., Labedan, I., Carré, A., Castanet, M., Guemas, I., Tron, E., Madhi, F., Delacourt, C., Maciel, R. M. B., & Polak, M. (2010) · Thyroid

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 27

First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations

Stoupa, A., Al Hage Chehade, G., Kariyawasam, D., Tohier, C., Bole-Feysot, C., Nitschke, P., Thibault, H., Jullie, M.-L., Polak, M., & Carré, A. (2020) · European Journal of Endocrinology

Thyroid Disorders and TreatmentsHead and Neck Anomalies

Cited by 16